Publications:

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Calpain activity is negatively regulated by a KCTD7-Cullin-3 complex via non-degradative ubiquitination.

Cell Discovery

Sharma, Jaiprakash J; Mulherkar, Shalaka S; Chen, Uan-I UI; Xiong, Yan Y; Bajaj, Lakshya L; Cho, Byoung-Kyu BK; Goo, Young Ah YA; Leung, Hon-Chiu Eastwood HE; Tolias, Kimberley F KF; Sardiello, Marco M

Publication Date: 2023-03-24

Variant appearance in text: KCTD7: R94W

PubMed Link: 36964131

Variant Present in the following documents:

• 41421_2023_533_MOESM1_ESM.pdf

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: KCTD7: 280C>T; Arg94Trp

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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KCTD7 mutations impair the trafficking of lysosomal enzymes through CLN5 accumulation to cause neuronal ceroid lipofuscinoses.

Science Advances

Wang, Yalan Y; Cao, Xiaotong X; Liu, Pei P; Zeng, Weijia W; Peng, Rui R; Shi, Qing Q; Feng, Kai K; Zhang, Pingzhao P; Sun, Huiru H; Wang, Chenji C; Wang, Hongyan H

Publication Date: 2022-08-05

Variant appearance in text: KCTD7: R94W

PubMed Link: 35921411

Variant Present in the following documents:

• sciadv.abm5578_sm.pdf

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Somatic and Germline Genomic Alterations in Very Young Women with Breast Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Waks, Adrienne G AG; Kim, Dewey D; Jain, Esha E; Snow, Craig C; Kirkner, Gregory J GJ; Rosenberg, Shoshana M SM; Oh, Coyin C; Poorvu, Philip D PD; Ruddy, Kathryn J KJ; Tamimi, Rulla M RM; Peppercorn, Jeffrey J; Schapira, Lidia L; Borges, Virginia F VF; Come, Steven E SE; Brachtel, Elena F EF; Warner, Ellen E; Collins, Laura C LC; Partridge, Ann H AH; Wagle, Nikhil N

Publication Date: 2022-06-01

Variant appearance in text: KCTD7: 280C>T

PubMed Link: 35101884

Variant Present in the following documents:

• ccr-21-2572_supplementary_table_s1_supps1.xlsx, sheet 1

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: KCTD7: 280C>T; Arg94Trp; rs387907260

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

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Molecular basis of the scalp-ear-nipple syndrome unraveled by the characterization of disease-causing KCTD1 mutants.

Scientific Reports

Smaldone, Giovanni G; Balasco, Nicole N; Pirone, Luciano L; Caruso, Daniela D; Di Gaetano, Sonia S; Pedone, Emilia Maria EM; Vitagliano, Luigi L

Publication Date: 2019-07-19

Variant appearance in text: KCTD7: R94W

PubMed Link: 31324836

Variant Present in the following documents:

• Main text
• 41598_2019_Article_46911.pdf

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A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing.

Journal Of Genetic Counseling

Zastrow, Diane B DB; Kohler, Jennefer N JN; Bonner, Devon D; Reuter, Chloe M CM; Fernandez, Liliana L; Grove, Megan E ME; Fisk, Dianna G DG; , ; Yang, Yaping Y; Eng, Christine M CM; Ward, Patricia A PA; Bick, David D; Worthey, Elizabeth A EA; Fisher, Paul G PG; Ashley, Euan A EA; Bernstein, Jonathan A JA; Wheeler, Matthew T MT

Publication Date: 2019-04

Variant appearance in text: KCTD7: 280C>T

PubMed Link: 30964584

Variant Present in the following documents:

• Main text

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A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.

Frontiers In Genetics

George, Arlene J AJ; Hoffiz, Yarely C YC; Charles, Antoinette J AJ; Zhu, Ying Y; Mabb, Angela M AM

Publication Date: 2018

Variant appearance in text: KCTD7: R94W

PubMed Link: 29491882

Variant Present in the following documents:

• Table2.xlsx, sheet 1

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Genetic and epigenetic mechanisms of epilepsy: a review.

Neuropsychiatric Disease And Treatment

Chen, Tian T; Giri, Mohan M; Xia, Zhenyi Z; Subedi, Yadu Nanda YN; Li, Yan Y

Publication Date: 2017

Variant appearance in text: KCTD7: R94W

PubMed Link: 28761347

Variant Present in the following documents:

• Main text
• ndt-13-1841.pdf

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: EPM3: R94W

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: KCTD7: R94W

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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The KCTD family of proteins: structure, function, disease relevance.

Cell & Bioscience

Liu, Zhepeng Z; Xiang, Yaqian Y; Sun, Guihong G

Publication Date: 2013-11-24

Variant appearance in text: KCTD7: R94W

PubMed Link: 24268103

Variant Present in the following documents:

• Main text
• 2045-3701-3-45.pdf

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A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.

American Journal Of Human Genetics

Staropoli, John F JF; Karaa, Amel A; Lim, Elaine T ET; Kirby, Andrew A; Elbalalesy, Naser N; Romansky, Stephen G SG; Leydiker, Karen B KB; Coppel, Scott H SH; Barone, Rosemary R; Xin, Winnie W; MacDonald, Marcy E ME; Abdenur, Jose E JE; Daly, Mark J MJ; Sims, Katherine B KB; Cotman, Susan L SL

Publication Date: 2012-07-13

Variant appearance in text: KCTD7: 280C>T

PubMed Link: 22748208

Variant Present in the following documents:

• Main text

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Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene.

Journal Of Medical Genetics

Kousi, Maria M; Anttila, Verneri V; Schulz, Angela A; Calafato, Stella S; Jakkula, Eveliina E; Riesch, Erik E; Myllykangas, Liisa L; Kalimo, Hannu H; Topçu, Meral M; Gökben, Sarenur S; Alehan, Fusun F; Lemke, Johannes R JR; Alber, Michael M; Palotie, Aarno A; Kopra, Outi O; Lehesjoki, Anna-Elina AE

Publication Date: 2012-06

Variant appearance in text: KCTD7: 280C>T; R94W

PubMed Link: 22693283

Variant Present in the following documents:

• Main text

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